← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-52152840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=52152840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 52152840,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000216923.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Ser451Asn",
"transcript": "NM_018197.3",
"protein_id": "NP_060667.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 681,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "ENST00000216923.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Ser451Asn",
"transcript": "ENST00000216923.5",
"protein_id": "ENSP00000216923.4",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 681,
"cds_start": 1352,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "NM_018197.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Ser449Asn",
"transcript": "ENST00000371515.8",
"protein_id": "ENSP00000360570.4",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 679,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.763+7283G>A",
"hgvs_p": null,
"transcript": "ENST00000361387.6",
"protein_id": "ENSP00000355179.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.763+7283G>A",
"hgvs_p": null,
"transcript": "ENST00000371518.6",
"protein_id": "ENSP00000360573.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Ser449Asn",
"transcript": "NM_199426.2",
"protein_id": "NP_955458.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 679,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Ser397Asn",
"transcript": "NM_022088.5",
"protein_id": "NP_071371.3",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 627,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Ser397Asn",
"transcript": "ENST00000346617.8",
"protein_id": "ENSP00000344615.4",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 627,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Ser395Asn",
"transcript": "XM_017027946.3",
"protein_id": "XP_016883435.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 625,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "XM_005260449.2",
"protein_id": "XP_005260506.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 523,
"cds_start": 878,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "XM_017027948.3",
"protein_id": "XP_016883437.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 523,
"cds_start": 878,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "XM_047440286.1",
"protein_id": "XP_047296242.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 523,
"cds_start": 878,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.763+7283G>A",
"hgvs_p": null,
"transcript": "NM_199427.3",
"protein_id": "NP_955459.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "n.588+7283G>A",
"hgvs_p": null,
"transcript": "ENST00000477786.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.757+7283G>A",
"hgvs_p": null,
"transcript": "XM_017027945.3",
"protein_id": "XP_016883434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.601+7283G>A",
"hgvs_p": null,
"transcript": "XM_017027947.3",
"protein_id": "XP_016883436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"hgvs_c": "c.595+7283G>A",
"hgvs_p": null,
"transcript": "XM_047440285.1",
"protein_id": "XP_047296241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFP64",
"gene_hgnc_id": 15940,
"dbsnp": "rs3746414",
"frequency_reference_population": 0.21143506,
"hom_count_reference_population": 37715,
"allele_count_reference_population": 341260,
"gnomad_exomes_af": 0.212711,
"gnomad_genomes_af": 0.19918,
"gnomad_exomes_ac": 310944,
"gnomad_genomes_ac": 30316,
"gnomad_exomes_homalt": 34488,
"gnomad_genomes_homalt": 3227,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002547711133956909,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000216923.5",
"gene_symbol": "ZFP64",
"hgnc_id": 15940,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Ser451Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}